List of variants in gene combination COL4A3, MFF-DT reported by Sydney Genome Diagnostics, Children's Hospital Westmead

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)	rs201697532	0.00039
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)	rs1256505387	0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)	rs914878176	0.00001
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met)	rs573527081	0.00001
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)	rs1131691738
NM_000091.5(COL4A3):c.1822G>A (p.Gly608Arg)	rs2071334080
NM_000091.5(COL4A3):c.2021G>T (p.Gly674Val)	rs1574767962
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])	rs1306992119
NM_000091.5(COL4A3):c.2621del (p.Gly874fs)	rs759043857
NM_000091.5(COL4A3):c.4462G>C (p.Gly1488Arg)	rs1574840156
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)	rs759873621

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